CDKL5 Proband Entry



Entry ID: cp455

Systematic name: c.532C>T

Protein name: p.Arg178Trp

Alternate name(s): p.R178W

Mutation type: missense

Domain: catalytic domain

Pathogenicity class: likely pathogenic variant

Gender: Female

Phenotype: Not Rett syndrome - epileptic encephalopathy

Other mutation:

X-inactivation results: Yes - 60:40

Chromosomal abnormality: Not known

Method of testing: DHPLC, exons 2-21

Source of DNA: blood

Familial testing: de novo

Familial X-inactivation:

Control screening: No

dbSNP ID: rs267608493

Source: Bahi-Buisson, N., Villeneuve, N., Caietta, E., Jacquette, A., Maurey, H., Matthijs, G., Van Esch, H., Delahaye, A., Moncla, A., Milh, M., Zufferey, F., Diebold, B., Bienvenu, T. (2012) Recurrent mutations in the CDKL5 gene: genotype-phenotype relationships. American Journal of Medical Genetics 158A:1612-1619. Pubmed ID: 22678952

Publication ID: Patient 6

Comments:

Entry last updated on: 2014-10-31 04:42:32

Similar entries in the proband database

cDNA name Protein name Phenotype Gender Reference Proband ID
c.532C>T p.Arg178Trp Not Rett syndrome - early-onset encephalopathy Female 19793311 Nemos et al (2009) cp98
c.532C>T p.Arg178Trp Rett syndrome - congenital onset Female Directly submitted cp265
c.532C>T p.Arg178Trp Rett syndrome - early-onset seizure Female 19362436 Artuso et al (2010) cp335

Displaying a total number of 3 proband entries.